Molecular basis of hypophosphatasia
| Project/Area Number |
24592794
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Functional basic dentistry
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| Research Institution | Niigata University |
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Principal Investigator |
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| Project Period (FY) |
2012-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2014: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2013: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2012: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | 低フォスファターゼ症 / 先天性遺伝疾患 / アルカリフォスファターゼ / 発症メカニズム / 石灰化不全 / Ｎ結合糖鎖 / N結合糖鎖 / 石灰化 |
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| Outline of Final Research Achievements |
Hypophosphatasia (HPP) is an inborn error of metabolism, characterized by hypomineralization of bone and teeth and a deficiency of tissue-nonspecific alkaline phosphatase (TNSALP). To date more than 300 mutations have been reported in the TNSALP gene worldwide. We investigated the effects of 6 independent missense mutations, which were found to be transmitted in a recessive or dominant way, on TNSALP in a molecular level. Our studies have revealed not only the molecular basis of HPP caused by each missense mutation, but also the physiological significance of TNSALP regarding to mineralization.
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Report
(5 results)
Research Products
(28 results)
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[Journal Article] Altered distribution of extracellular matrix proteins in the periodontal ligament of periostin-deficient mice.2014
Author(s)
Tabata C, Hongo H, Sasaki M, Hasegawa T, de Freitas PH, Yamada T, Yamamoto T, Suzuki R, Yamamoto T, Oda K, Li M, Kudo A, Iida J, Amizuka N.
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Journal Title
Histol Histopathol.
Volume: 29
Pages: 731-732
Related Report
Peer Reviewed
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[Journal Article] Altered distribution of bone matrix proteins and defective bone mineralization in klotho-deficient mice2013
Author(s)
Sasaki M., Hasegawa T., Yamada T., Hongo H., Freitas PHL., Suzuki R., Yamamoto T., Tabata C, , Toyosawa S., Yamamoto T., Oda K., Li M., Inoue N, , Amizuka N.
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Journal Title
Bone
Volume: 57(1)
Issue: 1
Pages: 206-219
DOI
Related Report
Peer Reviewed
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